Structural and functional analysis of a new desmin variant causing desmin-related myopathy
Abstract
Desmin-related myopathy is a familial or sporadic disease characterized by skeletal muscle weakness and cardiomyopathy as well as the presence of intracytoplasmic aggregates of desmin-reactive material in the muscle cells. Previously, two kinds of deletions and eight missense mutations have been identified in the desmin gene and proven to be responsible for the disorder. The present study was conducted to determine structural and functional...
Paper Details
Title
Structural and functional analysis of a new desmin variant causing desmin-related myopathy
Published Date
Oct 9, 2001
Journal
Volume
18
Issue
5
Pages
388 - 396
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